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Author Details

Jong-Won Kim
Samsung Medical Center, Sungkyunkwan University School of Medicine
1990
354
38
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36685919Enrichment of titin-truncating variants in exon 327 in dilated cardiomyopathy and its relevance to reduced nonsense-mediated mRNA decay efficiency.Front Genet2023
37558401Experience of reassessing <i>FBN1</i> variants of uncertain significance by gene-specific guidelines.J Med Genet2023
37461200Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome.Mol Genet Genomic Med2023
37180992Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.Brain Commun2023
37428026Measurements of beam characteristics on a 70 MeV H- cyclotron system for ISOL beam production.Rev Sci Instrum2023
34635607Clinical Practice Guidelines for Pre-Analytical Procedures of Plasma Epidermal Growth Factor Receptor Variant Testing.Ann Lab Med2022
35509994Functional and Structural Changes in the Membrane-Bound O-Acyltransferase Family Member 7 (MBOAT7) Protein: The Pathomechanism of a Novel <i>MBOAT7</i> Variant in Patients With Intellectual Disability.Front Neurol2022
35671604Discovery of BRCA1/BRCA2 founder variants by haplotype analysis.Cancer Genet2022
35606502Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.J Hum Genet2022
36601340Comprehensive clinical characterization of patients with <i>BRCA1</i>: c.5017_5019del germline variant.Ann Surg Treat Res2022
36174988Pathogenic Variants Spectrum and Allele Frequency of the <i>CFTR</i> Gene in Asians.Allergy Asthma Immunol Res2022
35189564Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.Cancer Genet2022
34907105Genetic Counseling and Long-Term Surveillance Using a Multidisciplinary Approach in von Hippel-Lindau Disease.Ann Lab Med2022
35177568Performance Evaluation of the PowerChek SARS-CoV-2, Influenza A &amp; B Multiplex Real-Time PCR Kit in Comparison with the BioFire Respiratory Panel.Ann Lab Med2022
35207417Clinical Utility of Plasma Cell-Free DNA EGFR Mutation Analysis in Treatment-Naïve Stage IV Non-Small Cell Lung Cancer Patients.J Clin Med2022
34645131Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.Cancer Res Treat2022
34635625A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting.Ann Lab Med2022
34635619Detection Methods and Status of CAT Interruption of <i>ATXN1</i> in Korean Patients With Spinocerebellar Ataxia Type 1.Ann Lab Med2022
34307692The Potential Role of Korean Mistletoe Extract as an Anti-Inflammatory Supplementation.J Immunol Res2021
33671539Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.Diagnostics (Basel)2021
33633223Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes.Sci Rep2021
34471564Dietary supplementation with <i>Ceriporia lacerata</i> improves learning and memory in a scopolamine-induced amnesia mouse model.Food Sci Biotechnol2021
34573290Performance Evaluation of SpliceAI for the Prediction of Splicing of <i>NF1</i> Variants.Genes (Basel)2021
34657357Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.Cancer Sci2021
34771705Statins Enhance the Molecular Response in Chronic Myeloid Leukemia when Combined with Tyrosine Kinase Inhibitors.Cancers (Basel)2021
34592335Comparison of the PowerChek SARS-CoV-2, Influenza A&amp;B, RSV Multiplex Real-time PCR Kit and BioFire Respiratory Panel 2.1 for simultaneous detection of SARS-CoV-2, influenza A and B, and respiratory syncytial virus.J Virol Methods2021
34414213The First Korean Case of <i>SLC12A3</i> Aberrant Skipping of Two Exons Detected by RNA Splicing Analysis.Case Rep Nephrol Dial2021
34063308A Population-Based Analysis of <i>BRCA1</i>/<i>2</i> Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.Cancers (Basel)2021
34011927Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers.Transl Psychiatry2021
34199654Analytical Validation of a Pan-Cancer Panel for Cell-Free Assay for the Detection of <i>EGFR</i> Mutations.Diagnostics (Basel)2021
32395759Quantitative and Qualitative QC of Next-Generation Sequencing for Detecting Somatic Variants: An Example of Detecting Clonal Hematopoiesis of Indeterminate Potential.Clin Chem2020
31692115Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia.J Clin Lab Anal2020
31858763Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea.Ann Lab Med2020
32770103Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment.Sci Rep2020
32241597CDH1 mutations in gastric cancers are not associated with family history.Pathol Res Pract2020
32492895Genotype-Related Clinical Characteristics and Myocardial Fibrosis and their Association with Prognosis in Hypertrophic Cardiomyopathy.J Clin Med2020
30555164HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia.Leukemia2019
31610630Direct-to-consumer genetic testing.Genomics Inform2019
31469036Multifocality in a Patient with Cribriform-Morular Variant of Papillary Thyroid Carcinoma Is an Important Clue for the Diagnosis of Familial Adenomatous Polyposis.Thyroid2019
31240878Korean Society for Genetic Diagnostics Guidelines for Validation of Next-Generation Sequencing-Based Somatic Variant Detection in Hematologic Malignancies.Ann Lab Med2019
31237926Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation.PLoS One2019
31003110Heritability estimates of individual psychological distress symptoms from genetic variation.J Affect Disord2019
30848080A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm.Mol Genet Genomic Med2019
30350268Prevalence and oncologic outcomes of BRCA 1/2 mutations in unselected triple-negative breast cancer patients in Korea.Breast Cancer Res Treat2019
29654895Electrostatically assembled dendrimer complex with a high-affinity protein binder for targeted gene delivery.Int J Pharm2018
29846283Menopausal hormone therapy and mild cognitive impairment: a randomized, placebo-controlled trial.Menopause2018
29869463A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.Yonsei Med J2018
30533452Data on the characterization of Raney nickel powder and Raney-nickel-coated electrodes prepared by atmospheric plasma spraying for alkaline water electrolysis.Data Brief2018
30326846DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.BMC Bioinformatics2018
29618667Evaluation of the broad-spectrum lytic capability of bacteriophage cocktails against various Salmonella serovars and their effects on weaned pigs infected with Salmonella Typhimurium.J Vet Med Sci2018
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Collaborators

Hong-Hee Won
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Yeon-Lim Suh
Samsung Medical Center, Sungkyunkwan University College of Medicine
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Hyunchul Jung
Wellcome Sanger Institute
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Sang Yong Song
Center for Nanophase Materials Sciences, Oak Ridge National Laboratory
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John M Maris
Children's Hospital of Philadelphia
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Angela M Christiano
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Ani Manichaikul
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Nicholas J Timpson
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Massimo Mangino
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Alanna C Morrison
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Abraham Aviv
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Young Jin Kim
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Amanda B Spurdle
QIMR Berghofer Medical Research Institute
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Carl D Langefeld
Wake Forest University School of Medicine
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Tim D Spector
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Release 1.2